A pathogenic galactosidase a mutation coexisting with an MYBPC3 mutation in a female patient with hypertrophic cardiomyopathy

Vitale, GiovanniPasquale, FerdinandoLeone, OrnellaCenacchi, GiovannaNiro, FabioTorrado, MarioManeiro, EmiliaGraziosi, MaddalenaDitaranto, RaffaelloCapelli, IreneMonserrat, LorenzoRapezzi, ClaudioBiagini, Elena2025-05-072025-05-072020-09Vitale G, Pasquale F, Leone O, Cenacchi G, Niro F, Torrado M, Maneiro E, Graziosi M, Ditaranto R, Capelli I, Monserrat L, Rapezzi C, Biagini E. A pathogenic galactosidase a mutation coexisting with an MYBPC3 mutation in a female patient with hypertrophic cardiomyopathy. Can J Cardiol. 2020 Sep;36(9):1554.e1-1554.e3.0828-282Xhttp://hdl.handle.net/2183/41927Case report[Abstract] The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistochemistry. In the presence of a hypertrophic cardiomyopathy phenotype, the systematic search for unusual findings is mandatory to rule out a phenocopy.[Resumé] On a observé la coexistence de mutations des gènes GLA (Pro259Ser, c.775C>T) et MYBPC3 (c.1351+2T>C) chez une patiente atteinte d’une cardiomyopathie hypertrophique. L’examen histologique a révélé une vacuolisation importante et la présence de corps lamellaires osmiophiles, et l’analyse par immunohistochimie a mis au jour la présence de globotriaosylcéramides (Gb3). En présence d’un phénotype de cardiomyopathie hypertrophique, il est impératif de rechercher systématiquement les anomalies afin d’écarter la possibilité d’une phénocopie.engCreative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC-BY-NC-ND 4.0)http://creativecommons.org/licenses/by-nc-nd/3.0/es/Cardiomyopathy, HypertrophicCarrier ProteinsDNAGalactosidasesGenetic Predisposition to DiseaseMutationMyocardiumA pathogenic galactosidase a mutation coexisting with an MYBPC3 mutation in a female patient with hypertrophic cardiomyopathyjournal articleopen access10.1016/j.cjca.2020.04.008